SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1336106190 TMEM216 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 2
RS1336108562 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1336115331 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1336117447 MCM3AP Health Risk Pathogenic —
RS1336143561 LOX Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 10
RS1336146310 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1336147749 MAP2K1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS1336164502 TRMU Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS1336171284 GNRH1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 12 with or without anosmia, Hypogonadotropic hypogonadism
RS1336175305 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS1336176104 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS1336177262 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Lowe syndrome
RS1336208372 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1336214631 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1336228562 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1336228861 ARID1A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1336232266 TAP1 Health Risk Pathogenic MHC class I deficiency, Glioma susceptibility 1
RS1336253157 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1336260427 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1336274191 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1336307815 STRC Health Risk Likely pathogenic Rare genetic deafness, STRC-related disorder
RS1336317768 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Retinal dystrophy
RS1336339961 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1336343565 RAG2 Health Risk Likely pathogenic —
RS1336350265 CNTN6 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1336354545 PTH1R Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS1336355924 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1336382616 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1336387628 TGFB1 Health Risk Likely pathogenic Encephalopathy, IL10-related early-onset inflammatory bowel disease
RS1336390351 EZH2 Health Risk Conflicting classifications of pathogenicity Weaver syndrome, Inborn genetic diseases
RS1336395181 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1336396788 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial isolated arrhythmogenic right ventricular dysplasia
RS1336441841 SLC27A4 Health Risk Pathogenic —
RS1336481358 GLE1 Health Risk Pathogenic Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal arthrogryposis-anterior horn cell disease syndrome
RS1336484333 DDB2 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group E
RS1336507340 SCN1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Early-infantile DEE
RS1336513210 ADAMTSL4 Health Risk Pathogenic —
RS1336552092 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Schwartz-Jampel syndrome type 1
RS1336558090 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1336566500 FCHO1 Health Risk Pathogenic Severe congenital neutropenia, Immunodeficiency with T and B cell lymphopenia
RS1336571464 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1336573328 CLTC Health Risk Likely pathogenic —
RS1336584572 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1336602322 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1336603960 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1336618986 UNC80 Health Risk Pathogenic —
RS1336620798 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS1336624126 MARVELD2 Health Risk Pathogenic —
RS1336636537 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS1336642579 SLC26A4 Health Risk Likely pathogenic —
RS1336644939 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1336651679 CDAN1 Health Risk Pathogenic Anemia, congenital dyserythropoietic
RS1336652138 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1336670524 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1336685414 VARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS1336686272 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1336686317 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Combined immunodeficiency with skin granulomas
RS1336690304 AIPL1 Health Risk Likely pathogenic Leber congenital amaurosis 4, AIPL1-related retinopathy
RS1336696568 ASAH1 Health Risk Pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1336726861 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1336732262 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1336741146 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1336749001 CTSF Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1336771064 ALOX12B Health Risk Likely pathogenic Lamellar ichthyosis, Lamellar ichthyosis
RS1336782801 USP9X Health Risk Pathogenic —
RS1336789467 ROR2 Health Risk Likely pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS1336792481 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1336799362 FCSK Health Risk Likely pathogenic Congenital disorder of glycosylation with defective fucosylation 2, Congenital disorder of glycosylation with defective fucosylation 2
RS1336799721 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS1336819076 SDHAF2 Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma/paraganglioma syndrome 2
RS1336824977 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1336828226 SLC13A5 Health Risk Conflicting classifications of pathogenicity —
RS1336834251 FANCA Health Risk Pathogenic/Likely pathogenic FANCA-related disorder, Fanconi anemia
RS1336842896 ERCC6L2 Health Risk Pathogenic —
RS1336849921 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS1336850278 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1336906464 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS1336910973 ALOX12B Health Risk Conflicting classifications of pathogenicity —
RS1336921050 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1336935881 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1336937886 CSRP3 Health Risk Pathogenic Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
RS1336978749 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS1337002578 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1337014971 NMNAT1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1337017523 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1337018128 RNASEH2B Health Risk Pathogenic Aicardi Goutieres syndrome, Aicardi Goutieres syndrome
RS1337022607 PKD1 Health Risk Pathogenic —
RS1337062385 TSEN54 Health Risk Pathogenic —
RS1337070499 TRIM37 Health Risk Pathogenic —
RS1337097412 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1337097694 PEX5 Health Risk Likely pathogenic Peroxisome biogenesis disorder due to PEX5 defect, Peroxisome biogenesis disorder due to PEX5 defect
RS1337113054 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1337146202 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1337149388 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1337159250 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1337182136 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1337186041 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1337201010 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1337206941 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS1337215414 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
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